Danon disease is a disease that is associated with the heart muscle not functioning properly. It was characterized and named by Moris Danon in 1981. Moris was a Turkish neurologist who was in the study of metabolic disorders at the time. The first case of the Danon disease was in 1981 when two
boys had heart and skeletal muscle disease and a mental disorder. heart and skeletal muscle disease is different from Danon disease, is has to do with muscle weakness. Scientist and doctors tried to view the disease as something like the Pompe disease. They soon found out that tests for Pompe disease are normal for Danon disease patients. This showed the scientists and doctors that the Danon disease is caused by something other than the cause for Pompe disease.
Molecular Basis/Why This Happens-
The reason for Danon disease is know but no understood very well. this genetic defect involves a gene called LAMP2. A person with Danon disease the LAMP2 gene is mutated or changed. In a normal LAMP2 proteins are no longer made. The full understanding of the LAMP2 gene is unknown, the LAMP2 protein is located in small structures in our cells called lysosomes. The lysosomes are important for getting rid of waste products like proteins, sugars, and fats that our body no longer needs. When a lack of LAMP2 proteins occurs it disrupts the function of the lysosomes. This is what causes the symptoms of Danon disease.
Male Symptoms-
The symptoms for Danon disease in males are as followed:
Early age of muscle weakness
Some learning problems/disabilities
Muscle weakness can get more extreme, possibly loosing the ability to walk
Heart problems and disease which may require medication and can lead to heart failure
Symptoms are progressive and usually get worse in males
Some cases have reported loss of visibility
Very rare to most physiciations, can be mistaken for other heart problems
Female Symptoms-
The symptoms for Danon disease in females are as followed (less severe):
Noticeable symptoms will not occur until later in a females life
Normal learning ability
Not much muscle weakness, possibly after exercise
Heart muscle disease is absent, some will see signs of it later in life
Danon Disease
Danon Diseasetoc
Introduction-
Molecular Basis/Why This Happens-
Male Symptoms-
Female Symptoms-
Citations-
Table of Contents
Introduction-
Danon disease is a disease that is associated with the heart muscle not functioning properly. It was characterized and named by Moris Danon in 1981. Moris was a Turkish neurologist who was in the study of metabolic disorders at the time. The first case of the Danon disease was in 1981 when two
boys had heart and skeletal muscle disease and a mental disorder. heart and skeletal muscle disease is different from Danon disease, is has to do with muscle weakness. Scientist and doctors tried to view the disease as something like the Pompe disease. They soon found out that tests for Pompe disease are normal for Danon disease patients. This showed the scientists and doctors that the Danon disease is caused by something other than the cause for Pompe disease.Molecular Basis/Why This Happens-
The reason for Danon disease is know but no understood very well. this genetic defect involves a gene called LAMP2. A person with Danon disease the LAMP2 gene is mutated or changed. In a normal LAMP2 proteins are no longer made. The full understanding of the LAMP2 gene is unknown, the LAMP2 protein is located in small structures in our cells called lysosomes. The lysosomes are important for getting rid of waste products like proteins, sugars, and fats that our body no longer needs. When a lack of LAMP2 proteins occurs it disrupts the function of the lysosomes. This is what causes the symptoms of Danon disease.Male Symptoms-
The symptoms for Danon disease in males are as followed:
Female Symptoms-
The symptoms for Danon disease in females are as followed (less severe):
Citations-
www.danondisease.org/id4.htmlhttp://www.google.com/imgres?um=1&hl=en&safe=active&client=firefox-a&rls=org.mozilla:en-US:official&channel=np&biw=1280&bih=623&tbm=isch&tbnid=jAbGjcXRQp_MxM:&imgrefurl=http:www.danondisease.org/id2.html&docid=NZJwxtVHHE2NXM&imgurl=http://www.danondisease.org/sitebuildercontent/sitebuilderpictures/Slide2.JPG&w=960&h=720&ei=cdRHT-v-KoGCgwez0PyPDg&zoom=1&iact=hc&vpx=127&vpy=158&dur=382&hovh=134&hovw=178&tx=150&ty=76&sig=112270442960408088809&page=1&tbnh=133&tbnw=177&start=0&ndsp=20&ved=1t:429,r:0,s:0
http://en.wikipedia.org/wiki/Danon_disease
http://www.google.com/imgres?um=1&hl=en&safe=active&client=firefox-a&rls=org.mozilla:en-US:official&channel=np&biw=1280&bih=623&tbm=isch&tbnid=TVwmY9jVLXOfmM:&imgrefurl=http:www.danondisease.org/id2.html&docid=NZJwxtVHHE2NXM&imgurl=http://www.danondisease.org/sitebuildercontent/sitebuilderpictures/Slide1.JPG&w=960&h=720&ei=cdRHT-v-KoGCgwez0PyPDg&zoom=1&iact=rc&dur=110&sig=112270442960408088809&page=1&tbnh=133&tbnw=177&start=0&ndsp=20&ved=1t:429,r:1,s:0&tx=67&ty=29
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http://www.google.com/imgres?um=1&hl=en&safe=active&client=firefox-a&rls=org.mozilla:en-US:official&channel=np&biw=1280&bih=623&tbm=isch&tbnid=V7Pb--4pPi1dTM:&imgrefurl=http:hypertrophiccardiomyopathymurmur.com/disease-of-heart-muscle&docid=X3z_5rVfqYS9QM&imgurl=http://3.bp.blogspot.com/-_caMAJdSXWI/TWIbm1qoLAI/AAAAAAAAAHg/Z8cHK2Lt0Ok/s1600/cardiomyopathy.jpg&w=400&h=320&ei=cdRHT-v-KoGCgwez0PyPDg&zoom=1&iact=rc&dur=355&sig=112270442960408088809&page=2&tbnh=127&tbnw=160&start=20&ndsp=25&ved=1t:429,r:9,s:20&tx=87&ty=102